ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Johns Hopkins Genomics,Johns Hopkins University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.489+3A>G rs377729736

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.